Canonical Allele Identifier: CA1072898857

Gene: NSUN2

Linked Data

• dbSNP Id: rs1737366858
• gnomAD v3: 5-6619931-G-A
• gnomAD v4: 5-6619931-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6619931G>A , CM000667.2:g.6619931G>A	GRCh38
NC_000005.9:g.6620044G>A , CM000667.1:g.6620044G>A	GRCh37
NC_000005.8:g.6673044G>A	NCBI36
NG_028215.1:g.18430C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264670.11:c.815+175C>T MANE Select	ENSP00000264670.6:n.815+175C>T
ENST00000264670.10:c.815+175C>T	ENSP00000264670.6:n.815+175C>T
ENST00000504374.5:c.*121+175C>T	ENSP00000421783.1:n.*121+175C>T
ENST00000505892.5:n.1384+175C>T
ENST00000506139.5:c.710+175C>T	ENSP00000420957.1:n.710+175C>T
NM_001193455.1:c.710+175C>T	NP_001180384.1:n.710+175C>T
NM_017755.5:c.815+175C>T	NP_060225.4:n.815+175C>T
NR_037947.1:n.1111+175C>T
NM_017755.6:c.815+175C>T MANE Select	NP_060225.4:n.815+175C>T
NM_001193455.2:c.710+175C>T	NP_001180384.1:n.710+175C>T
NR_037947.2:n.795+175C>T